Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.39243564G>A , CM000681.2:g.39243564G>A | GRCh38 |
| NC_000019.9:g.39734204G>A , CM000681.1:g.39734204G>A | GRCh37 |
| NC_000019.8:g.44426044G>A | NCBI36 |
| NG_042193.1:g.6408C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000613087.5:c.*68C>T | ENSP00000481633.1:n.*68C>T | |
| ENST00000413851.3:c.*68C>T MANE Select | ENSP00000409000.2:n.*68C>T | |
| ENST00000613087.4:c.*68C>T | ENSP00000481633.1:n.*68C>T | |
| NM_172139.4:c.*68C>T MANE Select | NP_742151.2:n.*68C>T | |
| NM_001346937.2:c.*68C>T | NP_001333866.1:n.*68C>T |